Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma

Although CDKN2A is the most frequent high-risk melanoma susceptibility gene, the underlying genetic factors for most melanoma-prone families remain unknown. Using whole exome sequencing, we identified a rare variant that arose as a founder mutation in the telomere shelterin POT1 gene (g.7:124493086...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Main Authors: Shi, Jianxin, Yang, Xiaohong R., Ballew, Bari, Rotunno, Melissa, Calista, Donato, Fargnoli, Maria Concetta, Ghiorzo, Paola, Paillerets, Brigitte Bressac-de, Nagore, Eduardo, Avril, Marie Francoise, Caporaso, Neil E., McMaster, Mary L., Cullen, Michael, Wang, Zhaoming, Zhang, Xijun, Bruno, William, Pastorino, Lorenza, Queirolo, Paola, Banuls-Roca, Jose, Garcia-Casado, Zaida, Vaysse, Amaury, Mohamdi, Hamida, Riazalhosseini, Yasser, Foglio, Mario, Jouenne, Fanélie, Hua, Xing, Hyland, Paula L., Yin, Jinhu, Vallabhaneni, Haritha, Chai, Weihang, Minghetti, Paola, Pellegrini, Cristina, Ravichandran, Sarangan, Eggermont, Alexander, Lathrop, Mark, Peris, Ketty, Scarra, Giovanna Bianchi, Landi, Giorgio, Savage, Sharon A., Sampson, Joshua N., He, Ji, Yeager, Meredith, Goldin, Lynn R., Demenais, Florence, Chanock, Stephen J., Tucker, Margaret A., Goldstein, Alisa M., Liu, Yie, Landi, Maria Teresa
Format: Artigo
Sprog:Inglês
Udgivet: 2014
Fag:
Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4056593/
https://ncbi.nlm.nih.gov/pubmed/24686846
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.2941
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker